Prof Dr. Stefan Mundlos

Full Professor of Human Genetics
Chair of Institute for Medical Genetics
and head of research group Development
& Disease at the Max Planck Institute for Molecular Genetics

1978-1981  School of Medicine, Georg August Universität Göttingen
1984   School of Medicine, Philipps Universität Marburg
1985   M.D., Ruprecht Karls Universität, Heidelberg
1987   Dr. med., Philipps Universität Marburg
1992   Board Certification in Pediatrics
1997   Habilitation, Johannes Gutenberg University Mainz
1998   Board Certification in Human Genetics

Carreer/Employment

1987-92   Residency in Pediatric Medicine and Human Genetics at the Children´s Hospital of the Johannes Gutenberg Universität, Mainz
1993-94   Royal Children´s Hospital and Murdoch institute for Research into Birth Defects, University of Melbourne, Australia.
1994-96   Harvard Medical School, Boston, USA. Work in the laboratory of Prof. B.R. Olsen, Dept. of Cell Biology, on the molecular pathogenesis of skeletal disease
1996-99   Instructor in Pediatric Medicine and Genetics, Children´s Hospital, Johannes Gutenberg Universität, Mainz
1999   Head of the Division of Developmental Genetics at the Institute of Human Genetics, Ruprecht Karls Universität, Heidelberg
2000-   Head of Institute for Medical Genetics, Charité, Berlin and research group Development & Disease at the Max Planck Institute for Molecular Genetics

Contact Information

Charité - Universitätsmedizin Berlin Institute for Medical Genetics
Augustenburger Platz 1
13353 Berlin

Phone: +49 30 450 569 121
Fax: +49 30 450 569 915
email:stefan.mundlos@charite.de
email:mundlos@molgen.mpg.de
www:www.molgen.mpg.de/research/mundlos

Research Fields

1) main field: Human Genetics
2) other fields: skeletal development, skeletal disease, limb
    development, regeneration of bone, muscle development
3) current research interest: molecular basis of variability and
    penetrance, differentiation of bone and cartilage cells,
    rare recessive diseases

Honours, Awards, Fellowships, Memberships of
Professional Societies:

Awards:
1997   ‘Adalbert-Czerny’ award from Deutsche Gesellschaft für Kinderheilkunde und Jugendmedizin

Grants:
European community, DFG (German Research Foundation), BMBF (German Ministry of Education, Research and Technology), industry

Memberships:
German Society for Human Genetics (Board Member), International Skeletal Dysplasia Society

Experiences in Doctoral Education

- GRK 1122 Infection - Biology and Immunology (HUB/MPI/CCM)
- number of PhD students supervised successfully:
  6 (all completed with mark 1 and higher)
- number of MSc (incl. diplomands) supervised successfully: about 10
- number of MD students supervised successfully: about 15

Collaborative Research Projects (selection)

Contacts to industry

Novartis Pharmaceuticals - collaboration
BioPharm - collaboration

10 selected Publications

1: Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann
Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome. Am J Hum Genet. 2006 Aug;79(2):402-8.

2: Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmuller H, Hubner C, Mundlos S.
Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal gamma Subunit. Am J Hum Genet. 2006 Aug;79(2):303-12.

3: Hecht J, Kuhl H, Haas SA, Bauer S, Poustka AJ, Lienau J, Schell H, Stiege AC, Seitz V, Reinhardt R, Duda GN, Mundlos S, Robinson PN.
Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep. BMC Genomics. 2006 Jul 5;7(1):172

4: Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S.
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005 Sep;115(9):2373-81.

5: Albrecht A, Mundlos S.
The other trinucleotide repeat: polyalanine expansion disorders. Curr Opin Genet Dev. 2005 Jun;15(3):285-93.

6: Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J, Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S.
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J Clin Invest. 2005 Apr;115(4):900-9.

7: Albrecht AN, Kornak U, Boddrich A, Suring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S.
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Hum Mol Genet. 2004 Oct 15;13(20):2351-9.

8: Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Hohne W, Ritter H, Leschik G, Nurnberg P, Mundlos S.
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60.

9: Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S.
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82.

10: Kornak U, Mundlos S.
Genetic disorders of the skeleton: a developmental approach. Am J Hum Genet. 2003 Sep;73(3):447-74.